COL17A1 collagen type XVII alpha 1 chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: COL17A1provided by HGNC
Official Full Name: collagen type XVII alpha 1 chainprovided by HGNC
Primary source: HGNC:HGNC:2194
See related: Ensembl:ENSG00000065618 MIM:113811; AllianceGenome:HGNC:2194
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERED; JEB4; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2
Summary: This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 286.9), colon (RPKM 25.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.1

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (104031286..104085880, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (104918673..104973997, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105791044..105845638, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Title: Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Title: Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
Title: Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
What's new in the pathogeneses and triggering factors of bullous pemphigoid.
Title: What's new in the pathogeneses and triggering factors of bullous pemphigoid.
Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Title: Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Read-Through for Nonsense Mutations in Type XVII CollagenDeficient Junctional Epidermolysis Bullosa.
Title: Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
Title: Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
BP180/Collagen XVII: A Molecular View.
Title: BP180/Collagen XVII: A Molecular View.
EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis.
Title: EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis.
Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway.
Title: Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epidermolysis bullosa, junctional 4, intermediate MedGen: C2608084 OMIM: 619787 GeneReviews: Not available	not available
Epithelial recurrent erosion dystrophy MedGen: C1852551 OMIM: 122400 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

COL17A1_2511 (e-PCR)
- UniSTS:280614

STS-AA034033 (e-PCR)
- UniSTS:74298

RH71257 (e-PCR)
- UniSTS:6655

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent conferring tensile strength	HDA more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	TAS Traceable Author Statement more info	PubMed
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in hemidesmosome assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	TAS Traceable Author Statement more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in hemidesmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: collagen alpha-1(XVII) chain

Names: 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16H23.2 (collagen, type XVII, alpha 1 (BP180)); bullous pemphigoid antigen 2 (180kD); collagen XVII, alpha-1 polypeptide; collagen, type XVII, alpha 1; type XVII collagen alpha-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007069.1 RefSeqGene

Range

5001..59595

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1249

mRNA and Protein(s)

NM_000494.4 → NP_000485.3 collagen alpha-1(XVII) chain

See identical proteins and their annotated locations for NP_000485.3

Status: REVIEWED

Source sequence(s)

AF136185, AI572644, AL138761, DA646288, M91669

Consensus CDS

CCDS7554.1

UniProtKB/Swiss-Prot

Q02802, Q5JV36, Q99018, Q9NQK9, Q9UC14, Q9UMD9

UniProtKB/TrEMBL

D3DRA2

Related

ENSP00000497653.1, ENST00000648076.2

Conserved Domains (1) summary

pfam01391
Location:576 → 635

Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

104031286..104085880 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

104918673..104973997 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_130778.1: Suppressed sequence

Description

NM_130778.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.